Previous HGNC Symbols for ATP13A2 Gene

Previous GeneCards Identifiers for ATP13A2 Gene

Summaries for ATP13A2 Gene

Entrez Gene Summary for ATP13A2 Gene

This gene encodes a member of the P5 subfamily of ATPases which transports inorganic cations as well as other substrates. Mutations in this gene are associated with Kufor-Rakeb syndrome (KRS), also referred to as Parkinson disease 9. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2008]

GeneCards Summary for ATP13A2 Gene

ATP13A2 (ATPase Type 13A2) is a Protein Coding gene.
Diseases associated with ATP13A2 include kufor-rakeb syndrome and parkinson disease type 9.
Among its related pathways are Neuroscience.
GO annotations related to this gene include cation-transporting ATPase activity.
An important paralog of this gene is ATP13A3.

mRNA Expression by UniProt/SwissProt for ATP13A2 Gene

Tissue specificity:Expressed in brain; protein levels are markedly increased in brain from subjects with Parkinson disease and subjects with dementia with Lewy bodies. Detected in pyramidal neurons located throughout the cingulate cortex (at protein level). In the substantia nigra, it is found in neuromelanin-positive dopaminergic neurons (at protein level).